SEC14L2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 3159118	NM_012429.5(SEC14L2):c.34C>G (p.Gln12Glu)	SEC14L2 (Q12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508429	NM_012429.5(SEC14L2):c.128G>A (p.Arg43Gln)	SEC14L2 (R43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159115	NM_012429.5(SEC14L2):c.170G>A (p.Arg57Gln)	SEC14L2 (R3Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159116	NM_012429.5(SEC14L2):c.188G>A (p.Arg63Gln)	SEC14L2 (R63Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159117	NM_012429.5(SEC14L2):c.208A>G (p.Asn70Asp)	SEC14L2 (N16D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159119	NM_012429.5(SEC14L2):c.388C>A (p.Leu130Met)	SEC14L2 (L76M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791373	NM_012429.5(SEC14L2):c.410A>G (p.His137Arg)	SEC14L2 (H137R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2400221	NM_012429.5(SEC14L2):c.451A>G (p.Ile151Val)	SEC14L2 (I68V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159120	NM_012429.5(SEC14L2):c.496C>G (p.Pro166Ala)	SEC14L2 (P112A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761094	NM_012429.5(SEC14L2):c.519+10A>T	SEC14L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3317017	NM_012429.5(SEC14L2):c.537G>T (p.Glu179Asp)	SEC14L2 (E179D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616561	NM_012429.5(SEC14L2):c.548C>A (p.Pro183His)	SEC14L2 (P100H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384097	NM_012429.5(SEC14L2):c.550G>A (p.Glu184Lys)	SEC14L2 (E130K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539836	NM_012429.5(SEC14L2):c.700C>T (p.Pro234Ser)	SEC14L2 (P234S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390132	NM_012429.5(SEC14L2):c.709G>A (p.Val237Met)	SEC14L2 (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159121	NM_012429.5(SEC14L2):c.781G>A (p.Gly261Arg)	SEC14L2 (G261R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317016	NM_012429.5(SEC14L2):c.971T>C (p.Met324Thr)	SEC14L2 (M270T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317018	NM_012429.5(SEC14L2):c.1182G>C (p.Met394Ile)	SEC14L2 (M394I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 41